Canonical Allele Identifier: CA235969
Gene: FKBP10 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.41819452G>T
GRCh37 chr17:g.39975704G>T
gnomAD v2:
17:39975704 G / T
gnomAD v3:
17:41819452 G / T
gnomAD v4:
chr17-41819452-G-T
Joint Max Group AF 0.03189505 (MID)
Genomes Max Group AF 0.01403631 (NFE)
Exomes Max Group AF 0.03204886 (MID)
ClinVar Allele:
188883
ClinVar RCV:
RCV000171257
RCV000989848
RCV003917583
ClinVar Variation:
191077
dbSNP:
141387386
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41819452G>T , CM000679.2:g.41819452G>T GRCh38
NC_000017.10:g.39975704G>T , CM000679.1:g.39975704G>T GRCh37
NC_000017.9:g.37229230G>T NCBI36
NG_015860.1:g.11743G>T , LRG_12:g.11743G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706683.1:c.728-817G>T ENSP00000516497.1:n.728-817G>T
ENST00000321562.9:c.917+53G>T MANE Select ENSP00000317232.4:n.917+53G>T
ENST00000321562.8:c.917+53G>T ENSP00000317232.4:n.917+53G>T
ENST00000455106.1:c.145+53G>T
ENST00000487489.1:n.530+53G>T
ENST00000489591.5:c.*327+53G>T ENSP00000466352.1:n.*327+53G>T
NM_021939.3:c.917+53G>T , LRG_12t1:c.917+53G>T NP_068758.3:n.917+53G>T
XM_011525099.1:c.917+53G>T XP_011523401.1:n.917+53G>T
XM_011525100.1:c.644+53G>T XP_011523402.1:n.644+53G>T
XM_011525099.3:c.917+53G>T XP_011523401.1:n.917+53G>T
XM_011525100.2:c.644+53G>T XP_011523402.1:n.644+53G>T
NM_021939.4:c.917+53G>T MANE Select NP_068758.3:n.917+53G>T
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